Detalhe da pesquisa
1.
A mitochondrial expatriate: nuclear pyruvate dehydrogenase.
Cell
; 158(1): 9-10, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24995972
2.
Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population.
Cell
; 158(6): 1415-1430, 2014 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25215496
3.
New driver for lipid synthesis.
Cell
; 147(4): 719-21, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22078872
4.
Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.
J Biol Chem
; 299(9): 105047, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451483
5.
Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans.
Am J Hum Genet
; 108(11): 2099-2111, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34678161
6.
A review of fatty acid oxidation disorder mouse models.
Mol Genet Metab
; 142(1): 108351, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430613
7.
The biochemistry and physiology of long-chain dicarboxylic acid metabolism.
Biochem J
; 480(9): 607-627, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37140888
8.
Integrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets.
Gastroenterology
; 162(3): 828-843.e11, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780722
9.
A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency.
Am J Med Genet A
; 191(4): 1089-1093, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36579410
10.
Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.
J Inherit Metab Dis
; 46(5): 931-942, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37309295
11.
DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo.
Hum Mol Genet
; 29(7): 1168-1179, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32160276
12.
Intestinal Inflammation Modulates the Expression of ACE2 and TMPRSS2 and Potentially Overlaps With the Pathogenesis of SARS-CoV-2-related Disease.
Gastroenterology
; 160(1): 287-301.e20, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980345
13.
Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis.
Cell Mol Life Sci
; 78(14): 5631-5646, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34110423
14.
Functional Versatility of the Human 2-Oxoadipate Dehydrogenase in the L-Lysine Degradation Pathway toward Its Non-Cognate Substrate 2-Oxopimelic Acid.
Int J Mol Sci
; 23(15)2022 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35897808
15.
Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains.
Mol Genet Metab
; 132(2): 139-145, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33483254
16.
The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis.
J Inherit Metab Dis
; 44(6): 1419-1433, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34564857
17.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 101(2): 239-254, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777931
18.
The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies.
Mol Genet Metab
; 131(1-2): 14-22, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32768327
19.
Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.
FASEB J
; 33(3): 4355-4364, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30540494
20.
Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1.
J Inherit Metab Dis
; 43(6): 1154-1164, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32567100